QuyenAnhDE/medical huggingface dataset:
Dravet Syndrome
Definition: An epilepsy that is characterized by frequent febrile seizures with onset before 1 year.
Synonyms: SMEI
juvenile absence epilepsy
Definition: An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures. [JA:Epilepsy Genetics Kiel, url:http://www.ilae-epilepsy.org]
Timothy syndrome
Definition: An autosomal dominant disease that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features. The two forms are type 1 (classic) and type 2, a rare form caused by mutations in a transcript variant of CACNA1C.
GABA aminotransferase deficiency
Definition: A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde.
Synonyms: gamma-aminobutyric acid transaminase deficiency
succinic semialdehyde dehydrogenase deficiency
Definition: A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid.
Synonyms: SSADH
gamma-amino butyric acid metabolism disorder
Definition: An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway.
homocarnosinosis
Definition: A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has_material_basis_in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine.
familial hemiplegic migraine
Definition: A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness.
Renpenning syndrome
Definition: An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males.
colitis
Definition: An inflammatory bowel disease that involves inflammation located_in colon.
ischemic colitis
Definition: A colitis caused_by inadequate blood supply to the colon.
microscopic colitis
Definition: A colitis that can only be diagnosed_by the examination of colon tissue under a microscope.
collagenous colitis
Definition: A colitis characterized by a distinctive thickening of the subepithelial collagen table.
lymphocytic colitis
Definition: A colitis characterized by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria).
Clostridium difficile colitis
Definition: A colitis characterized by an overgrowth of Clostridium difficile bacteria.
Synonyms: Pseudomembranous colitis
chemical colitis
Definition: A colitis caused_by introduction of various chemicals.
diversion colitis
Definition: A colitis caused_by diversion of the fecal stream due to complication of ileostomy or colostomy.
jejunoileitis
Definition: An inflammatory bowel disease that is characterized by patchy areas of inflammation located_in jejunum, has_symptom abdominal pain, has_symptom diarrhea, has_symptom cramps and has_symptom formation of fistulas.
ileitis
Definition: An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss.
Synonyms: Crohn's ileitis
ileocolitis
Definition: An inflammatory bowel disease characterized by inflammation located_in colon and located_in ileum, has_symptom diarrhea, has_symptom weight loss, has_symptom abdominal pain in middle or lower right part.
gastroduodenal Crohn's disease
Definition: An inflammatory bowel disease characterized by inflammation located_in stomach and located_in duodenum, has_symptom nausea, has_symptom vomiting, has_symptom weight loss and has_symptom loss of appetite.
Synonyms: upper GI Crohn's disease
Crohn's colitis
Definition: An inflammatory bowel disease characterized by inflammation located_in colon only, has_symptom diarrhea, has_symptom rectal bleeding, has_symptom skin lesions and has_symptom formation of ulcers, fistulas and abscesses around the anus.
amyotrophic lateral sclerosis type 1
Definition: The most common type of familial ALS caused_by mutation located_in SOD1 gene located in chromosome 21.
Synonyms: amyotrophic lateral sclerosis 1
amyotrophic lateral sclerosis type 2
Definition: A type of ALS with juvenile onset caused_by mutation located_in alsin gene located_in chromosome 2.
Synonyms: amyotrophic lateral sclerosis 2, juvenile
amyotrophic lateral sclerosis type 3
Definition: A type of ALS with loci associated with the disease located_in chromosome 18.
Synonyms: amyotrophic lateral sclerosis 3
amyotrophic lateral sclerosis type 4
Definition: A type of ALS with juvenile onset caused_by mutation located_in senataxin gene (SETX) located_in chromosome 9.
Synonyms: distal hereditary motor neuropathy with upper motor neuron signs
amyotrophic lateral sclerosis type 5
Definition: A type of ALS with juvenile onset caused_by homozygous or compound heterozygous mutation in the spatacsin gene (SPG11) on chromosome 15q21.
Synonyms: amyotrophic lateral sclerosis 5
amyotrophic lateral sclerosis type 6
Definition: A type of ALS caused_by mutation located_in FUS gene located_in chromosome 16.
Synonyms: autosomal recessive amyotrophic lateral sclerosis 6
amyotrophic lateral sclerosis type 7
Definition: A type of ALS with loci associated with the disease located_in chromosome 20.
Synonyms: amyotrophic lateral sclerosis 7
amyotrophic lateral sclerosis type 9
Definition: A type of ALS caused_by mutation located_in ANG gene located_in chromosome 14.
Synonyms: amyotrophic lateral sclerosis 9
amyotrophic lateral sclerosis type 10
Definition: A type of ALS caused_by mutation located_in TARDBP gene located_in chromosome 1.
Synonyms: TARDBP-related frontotemporal lobar degeneration with TDP43 inclusions
amyotrophic lateral sclerosis type 11
Definition: A type of ALS caused_by mutation located_in FIG4 gene located_in chromosome 6.
Synonyms: amyotrophic lateral sclerosis 11
amyotrophic lateral sclerosis type 12
Definition: A type of ALS caused_by mutation located_in OPTN gene located_in chromosome 10.
Synonyms: amyotrophic lateral sclerosis 12
amyotrophic lateral sclerosis type 13
Definition: A type of ALS were intermediate-length polyglutamine repeat expansions in the ATXN2 gene located_in chromosome 12 contribute to susceptibility.
Synonyms: amyotrophic lateral sclerosis 13
amyotrophic lateral sclerosis type 14
Definition: A type of ALS caused_by mutation located_in VCP gene located_in chromosome 9.
Synonyms: amyotrophic lateral sclerosis, with or without frontotemporal dementia
amyotrophic lateral sclerosis type 15
Definition: A type of ALS caused_by mutation located_in UBQLN 2 gene located_in X chromosome.
Synonyms: amyotrophic lateral sclerosis 15, with or without frontotemporal dementia
amyotrophic lateral sclerosis type 16
Definition: A type of ALS with juvenile onset caused_by mutation located_in SIGMAR1 gene (SETX) located_in chromosome 9.
Synonyms: amyotrophic lateral sclerosis 16, juvenile RELATED [OMIM:614373]
amyotrophic lateral sclerosis type 17
Definition: A type of ALS caused_by mutation located_in CHMP2B gene located_in chromosome 3.
Synonyms: CHMP2B-related amyotrophic lateral sclerosis
amyotrophic lateral sclerosis type 18
Definition: A type of ALS caused_by mutation located_in PFN1 gene located_in chromosome 17.
Synonyms: amyotrophic lateral sclerosis 18
amyotrophic lateral sclerosis type 19
Definition: A type of ALS caused_by mutation located_in ERBB4 gene located_in chromosome 2.
Synonyms: amyotrophic lateral sclerosis 19
amyotrophic lateral sclerosis type 20
Definition: A type of ALS with juvenile onset caused_by mutation located_in HNRNPA1 gene located_in chromosome 12.
Synonyms: amyotrophic lateral sclerosis 20
amyotrophic lateral sclerosis type 21
Definition: A type of ALS with juvenile onset caused_by mutation located_in MATR3 gene located_in chromosome 5.
Synonyms: ALS21
FTDALS1
Definition: A type of ALS caused_by mutation located_in C9ORF72 gene located_in chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.
Synonyms: FTDMND
FTDALS2
Definition: A type of ALS caused_by mutation located_in CHCHD10 gene located_in chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.
Synonyms: frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Balo concentric sclerosis
Definition: A demyelinating disease characterized by the fact that the demyelinated tissues form concentric layers.
Synonyms: Balo's concentric sclerosis
Cogan syndrome
Definition: An eye disease characterized by nonsyphilitic interstitial keratitis located_in cornea, has_symptom fever, has_symptom fatigue.
Synonyms: diffuse interstitual keratitis
Cogan-Reese syndrome
Definition: An eye disease characterized by variable iris atrophy, pigmented and pedunculated nodules located_in iris and attachment of the iris to the cornea (peripheral anterior synechiae) and characterized_by glaucoma.
CREST syndrome
Definition: A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia.
lymph node adenoid cystic carcinoma
Definition: A lymph node cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures of the lymph nodes. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes.
Synonyms: lymph node adenoid cystic cancer
physical urticaria
Definition: An urticaria induced by external physical influences. [ISBN:1416029990, url:http://en.wikipedia.org/wiki/Physical_urticaria, url:http://www.dermnetnz.org/reactions/urticaria.html]
Maffucci syndrome
Definition: A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas.
Scheie syndrome
Definition: A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan.
Synonyms: mucopolysaccharidosis type V
agraphia
Definition: An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell.
atrial fibrillation
Definition: A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.
Synonyms: A-fib
3MC syndrome
Definition: A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes.
Synonyms: oculopalatoskeletal syndrome
acrofrontofacionasal dysostosis
Definition: A dysostosis characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and anomalies of foot structure.
Synonyms: Richieri-Costa-Colletto syndrome
Adams-Oliver syndrome
Definition: A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs. [PMID:18000904, url:http://en.wikipedia.org/wiki/Adams%E2%80%93Oliver_syndrome, url:http://ghr.nlm.nih.gov/condition/adams-oliver-syndrome, url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/584/viewAbstract]
Synonyms: Adams Oliver syndrome
intracranial berry aneurysm
Definition: An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm.
Synonyms: saccular cerebral aneurysm
Baraitser-Winter syndrome
Definition: A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present.
basal ganglia calcification
Definition: A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills.
Synonyms: idiopathic basal ganglia calcification
Bruck syndrome
Definition: A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta.
Synonyms: osteogenesis imperfecta with congenital joint contractures
branchiootic syndrome
Definition: A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome.
Synonyms: branchiootic dysplasia
cardiofaciocutaneous syndrome
Definition: A syndrome characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities; it is caused by mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes.
Synonyms: CFC syndrome
Carpenter syndrome
Definition: An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly.
Synonyms: acrocephalopolysyndactyly type II
carnitine palmitoyltransferase II deficiency
Definition: A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria.
Synonyms: lethal neonatal carnitine palmitoyltransferase II deficiency
xanthinuria
Definition: A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones.
Synonyms: xanthine oxidase deficiency
Warburg micro syndrome
Definition: An autosomal recessive disease characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism.
Synonyms: Warburg-Sjo-Fledelius syndrome
Van Maldergem syndrome
Definition: A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation.
Synonyms: cerebro-facio-articular syndrome
Van der Woude syndrome
Definition: A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone.
Synonyms: lip-pit syndrome RELATED []
UV-sensitive syndrome
Definition: An autosomal recessive disease characterized by photosensitivity and liver spots (solar lentigines).
3-M syndrome
Definition: An autosomal recessive disease characterized by dwarfism, facial dysmorphia and skeletal abnormalities.
Synonyms: Yakut short stature syndrome
synpolydactyly
Definition: A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOX D13 gene.
Synonyms: syndactyly type 2
stuttering
Definition: An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech.
Synonyms: stammering
specific language impairment
Definition: A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors.
Mast syndrome
Definition: A hereditary spastic paraplegia associated with dementia.
Synonyms: autosomal recessive spastic paraplegia 21
MASA syndrome
Definition: A syndrome characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range.
Synonyms: X-linked corpus callosum agenesis
Smith-McCort dysplasia
Definition: An osteochondrodysplasia characterized by short limbs and a short trunk with a barrel-shaped chest and caused_by homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q.
Simpson-Golabi-Behmel syndrome
Definition: An X-linked disease characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities.
Synonyms: X-linked dysplasia gigantism syndrome
scoliosis
Definition: A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine.
idiopathic scoliosis
Definition: A scoliosis with no known cause.
sclerosteosis
Definition: A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life.
sclerocornea
Definition: A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea.
Synonyms: isolated congenital sclerocornea
scapuloperoneal myopathy
Definition: A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm.
Robinow syndrome
Definition: A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities.
Synonyms: Robinow dwarfism
rippling muscle disease
Definition: A muscle tissue disease characterized by muscles unusually sensitive to movement or pressure; the proximal muscles are most affected, especially the thighs.
Dowling-Degos disease
Definition: A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases.
Synonyms: reticular pigment anomaly of flexures
dyschromatosis symmetrica hereditaria
Definition: A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities.
Synonyms: reticulate acropigmentation of Dohi
reticulate acropigmentation of Kitamura
Definition: A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present.
Synonyms: RAPK
renal-hepatic-pancreatic dysplasia
Definition: A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth.
Synonyms: Ivemark's syndrome
ptosis
Definition: An eye disease characterized by the drooping or falling of the upper or lower eyelid.
Synonyms: drooping eyelid
congenital ptosis
Definition: A ptosis characterized by eyelid drop present at birth.
gallbladder disease
Definition: A gastrointestinal system disease that is located_in the gallbladder.
porencephaly
pontocerebellar hypoplasia
Synonyms: PCH
pontocerebellar hypoplasia type 1A
pontocerebellar hypoplasia type 1B
pontocerebellar hypoplasia type 2A
pontocerebellar hypoplasia type 2B
pontocerebellar hypoplasia type 2C
pontocerebellar hypoplasia type 2D
pontocerebellar hypoplasia type 2E
pontocerebellar hypoplasia type 3
pontocerebellar hypoplasia type 4
pontocerebellar hypoplasia type 5
pontocerebellar hypoplasia type 6
pontocerebellar hypoplasia type 7
pontocerebellar hypoplasia type 8
pontocerebellar hypoplasia type 9
pontocerebellar hypoplasia type 10
primary pigmented nodular adrenocortical disease
Definition: An adrenal cortex disease characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules.
photosensitive epilepsy
Definition: An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights.
Synonyms: photoparoxysmal response
persistent hyperplastic primary vitreous
peeling skin syndrome
paroxysmal nocturnal hemoglobinuria
parietal foramina
Synonyms: hereditary cranium bifidum
combined oxidative phosphorylation deficiency
cornea plana
Synonyms: flat cornea
omodysplasia
Ohdo syndrome
Definition: A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.
Synonyms: Ohdo blepharophimosis syndrome
blepharophimosis-intellectual disability syndrome, SBBYS type
Synonyms: SBBYSS RELATED []
oculodentodigital dysplasia
Definition: A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities. [PMID:12021949, url:http://ghr.nlm.nih.gov/condition/oculodentodigital-dysplasia, url:https://en.wikipedia.org/wiki/Oculodentodigital_dysplasia]
Synonyms: ODD syndrome
X-linked chondrodysplasia punctata
Synonyms: chondrodystrophia calcificans congenita
autosomal dominant chondrodysplasia punctata
cold-induced sweating syndrome
Definition: An autosomal dominant disease characterized by problems with regulating body temperature and other abnormalities affecting many parts of the body; caused_by mutations in the CRLF1 gene.
Synonyms: Sohar-Crisponi syndrome
complement component 2 deficiency
congenital secretory chloride diarrhea 1
Definition: A secretory diarrhea caused_by mutation in the SLC26A3 gene. [OMIM:214700]
Synonyms: congenital chloridorrhea
complement component 4a deficiency
complement component 4b deficiency
complement component 6 deficiency
complement component 7 deficiency
type I complement component 8 deficiency
type II complement component 8 deficiency
complement component 9 deficiency
dyschromatosis universalis hereditaria
Definition: A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution.
megalocornea
Definition: A corneal disease characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure; caused_by mutation in the CHRDL1 gene.
Synonyms: congenital anterior megalophthalmia
Meier-Gorlin syndrome
Definition: An autosomal recessive disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia and hypoplastic patellae.
Synonyms: ear-patella-short stature syndrome
autosomal dominant non-syndromic intellectual disability
Definition: A non-syndromic intellectual disability characterized by an autosomal dominant inheritance pattern.
Synonyms: autosomal dominant non-syndromic mental retardation
autosomal recessive non-syndromic intellectual disability
Definition: A non-syndromic intellectual disability characterized by an autosomal recessive inheritance pattern.
Synonyms: autosomal recessive non-syndromic mental retardation
syndromic X-linked intellectual disability
Definition: A syndromic intellectual characterized by an X-linked inheritance pattern.
Synonyms: syndromic X-linked mental retardation
uvulitis
Definition: An upper respiratory tract disease characterized by the swelling of the uvula to 3-5 times its normal size.
Synonyms: acute uvulitis
adenoid hypertrophy
Definition: An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has_symptom snoring, has_symptom hyponasality, has_symptom otitis media with effusion, has symptom mouth breathing.
Synonyms: enlarged adenoids
angular cheilitis
Definition: A cheilitis characterized by inflammation of one or both of the corners of the mouth.
Synonyms: commissural cheilitis
tracheomalacia
Definition: A tracheal disease characterized by flaccidity of the tracheal support cartilage.
Synonyms: congenital tracheomalacia